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Gestational diabetes mellitus (GDM) is defined as a glucose intolerance that occurs for the first time or it is first identified during pregnancy. The GDM etiology is multifactorial. It has not completely been established yet and several known risk factors may contribute to its onset. To date, there are no shared guidelines on the management and follow-up, especially regarding the low-income countries. In this paper, we describe the state of art about epidemiology, physiopathology, diagnosis, and management of GDM. Moreover, we focus on the current state in low income countries trying to outline basis for further research.

Objectives: The term betathalassemia includes all those hereditary disturbances of the hemoglobin (Hb), transferred trough a recessive autosomal mechanism, due to a reduced or else defective synthesis of beta globin sequences. The aim of this paper is to highlight as sometimes the only biochemical diagnosis is not exhaustive and a molecular diagnostic widening is necessary to detect the genetic deficiency that is the reason of the betathalassemic trait. Case Report and Results: To improve this theory the following clinical case is reported: a 29 years old girl that was 11 weeks pregnant addressed us to receive the prenatal screening test related to the first three-month pregnancy period. The biochemical and hematological tests highlighted that Mrs. D.F. was a carrier of the beta-thalassemic trait, (MCV 63fl↓, MCH 30pg, HbA2: 4.4↑, HbF:1.5↑, red blood cells 5.92x106/ul and Hb 12.4 g/dl), that has been confirmed trough our molecular analysis (genotype: β+IVS1.110 G→A in heterozigosys). More difficult to be realized was the case of Mr. B.A.: he showed an uncertain hematological picture labeled as "compatible with a α-thalassemia picture" (MCV 62.9fl ↓, MCH 21.4pg ↓, HbA2: 2.7, HbF: 1.0, red blood cells 5.33x106/ul, Hb 11.4 g/dl ↓). This picture revealed difficult to be understood because of the regularity of HbA2 (2.7%) that was in contrast with the value of the MCV (62.9). In situation like this only the molecular diagnosis allows correctly highlighting the specific typology of thalassemia the subject is carrier of. As a matter of fact the molecular analysis excluded the possibility that Mr. B.A. was a a-thalassemia carrier and pointed out that he was a healthy carrier of β-thalassemia (genotype β°39C→T in heterozigosys). In the light of what has been explained above, the couple has been informed about risks to beget child suffering from β-thalassemia and together with the married couple has been decided to work out a prenatal diagnosis through a sample of chorionic villus. Discussion and Conclusions: The identification of these particular cases fixes important implications about the prenatal diagnosis approach. The correct characterization of the healthy carrier is absolutely necessary with a subsequent study in depth of the partner's situation. It is important to highlight the importance of a careful study of hematological parameters and a widespread and correct information about clinical implication connected to the complications of the β-thalassemia. As to this subject, the molecular study of the defect of the gene let to point out couples that run the risk of β-thalassemia and to develop an exhaustive and correct information about the possibility to beget children suffering from β-thalassemia. If two carrier partners wish to have children they can chose among the following possibilities: they can be well informed about the risk and accept the possibility to beget a child suffering from β-thalassemia, they can give up the idea of having children or they can decide to beget children however but to avoid the possibility that the same suffers of thalassemia they can ask for a prenatal diagnosis. [ABSTRACT FROM AUTHOR]

The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 estimated rate, characterized by the presence of the combination of mandibular hypoplasia (micrognathia or small jaw), glossoptosis (retrusion of the tongue into the pharyngeal airway) and, often, a posterior cleft of the secondary palate. It may be an isolated occurrence or part of a more complex syndrome and it is associated with long-term respiratory, nutritional, and developmental difficulties. Stickler syndrome (SS) is a rare autosomal dominant connective tissue disorder estimated to affect approximately 1/7500 newborns. It is diagnosed clinically and, at present, there is no consensus on a minimal clinical diagnostic criterion. The most frequent diagnosis in patients with syndromic Pierre Robin sequence is Stickler syndrome, which may be complicated by congenital high myopia and substantial risk of retinal detachment. However, cases of Stickler syndrome with probable visual complications are rarely identified among this group of patients by members of the cleft team. The patient had an acute unilateral hydrops, with a monolateral keratoconus. The ocular abnormalities included: severe myopia, abnormalities of the vitreous, and high risk of retinal detachment (with subsequent blindness). We report two extremely rare cases of prenatal diagnosis of PRS and SS, prematurely identified by prenatal ultrasonography and successively managed by oculists ophthalmogists. [ABSTRACT FROM AUTHOR]

Background: The androgen insensitivity syndrome (AIS) is a disease connected with the inactivation of AR due to a mutation that inactivate male sexual differentiation, and causes a spectrum of phenotypic anomalies having as a common aspect the loss of reproductive characteristics. Patients: In this paper the clinical, endocrinological and molecular features of three patients are reported. The first case concerns a 17 years old patient, the second an infant suffering from inguinal hernia that has been surgically corrected when he was 3 months old and finally the third case concerns a 57 years old woman. Results: All the subjects had a common primary amenorrhea and a following pelvic echography highlighted the absence of internal genital organs and the presence of a dead-end vagina. All the patients are characterized by a normal male karyotype and present on the short arm of the Y chromosome the SRY gene. Moreover, FISH revealed the presence of androgen receptor gene on the X chromosome and the SRY gene on the Y one. The automatic sequencing of the genes for the androgen receptor (AR) shows that each subject has a mutation in the gene for the androgen receptor (AR). These mutations are associated with complete androgen insensivity syndrome (CAIS). All the cases of study exhibited a negative family history for CAIS. Conclusion: This study confirms the need to perform a pelvic examination by means of echography in pre-pubertal and pubertal age tohighlight the normality of the internal genitalia (uterus and ovaries). If a primary amenorrhea is checked, the karyotyping is compulsory. If a Morris's syndrome is suspected, it is of critical importance to find the rudimentary male gonads (by means of MRI, pelvic echography, laparoscopy) and surgically remove them to prevent the onset of malignancies (teratoblastoma, gonadoblastoma). Once the considered disease has been identified, a continuous psychological help can be considered useful for the patient and the family. [ABSTRACT FROM AUTHOR]